In this article we will provide 10 medical revision notes about hyperlipidaemia.
Key Points
Hyperlipidaemia refers to elevated levels of lipids in the blood, primarily cholesterol and triglycerides
It is a major risk factor for atherosclerosis, which can lead to ischaemic heart disease (IHD) and stroke
Management involves lifestyle modifications and pharmacological treatment, primarily with HMG CoA reductase inhibitors (statins)
Early identification and treatment are crucial to reducing the risk of cardiovascular events.
Cholesterol
What is cholesterol?
It is a fat which all humans need to keep healthy. Many different cells make cholesterol. The liver makes about a quarter of the total. Its function is to help the body make cell membranes, many hormones, and vitamin D. It is not a disease. The diagram above is what it looks like as a chemical.
1. Definition
Hyperlipidaemia is the abnormal elevation of lipids in the blood, including cholesterol, triglycerides, or both. It can be classified based on the lipid profile:
Hypercholesterolaemia: Elevated total cholesterol or low-density lipoprotein (LDL) cholesterol
Hypertriglyceridaemia: Elevated triglycerides
Mixed (combined) hyperlipidaemia: Elevation of both cholesterol and triglycerides.
2. Epidemiology
Hyperlipidaemia is very common, affecting around 60% of adults, with variations based on age, sex, and ethnicity
Men are more likely to have high cholesterol levels compared to women until menopause, after which the risk in women increases
Age-related increase: Lipid levels generally rise with age, increasing the risk of cardiovascular disease
It is a significant contributor to the burden of cardiovascular diseases, which remain one of the leading causes of death in the UK.
3. Risk factors
Non-modifiable
Age: Risk increases with advancing age
Gender: Men are at higher risk earlier in life; risk in women increases after menopause
Family history: Genetic predisposition plays a significant role, particularly in conditions like familial hypercholesterolaemia.
Modifiable
Diet: High intake of saturated fats, trans fats, and cholesterol
Obesity: Particularly central obesity
Sedentary lifestyle
Excessive alcohol consumption: Contributes mainly to hypertriglyceridaemia
Smoking: Lowers HDL (‘good’) cholesterol and increases total cholesterol
Comorbidities: Diabetes, hypertension, chronic kidney disease (CKD), and hypothyroidism.
4. Causes
Primary (genetic):
Familial hypercholesterolaemia (FH): An autosomal dominant disorder characterised by high LDL cholesterol
Polygenic hypercholesterolaemia: A common genetic condition resulting from multiple gene variations
Familial combined hyperlipidaemia: Elevated cholesterol and triglycerides due to genetic factors.
Secondary (acquired):
Dietary factors: High intake of saturated fats and sugar
Medications: E.g. corticosteroids, antiretrovirals, beta-blockers, thiazides, and oral contraceptives
Medical conditions: Hypothyroidism, nephrotic syndrome, chronic kidney disease, liver disease, and type 2 diabetes.
5. Symptoms
Asymptomatic: Most individuals with hyperlipidaemia are asymptomatic and are diagnosed through routine blood tests.
Physical signs (in severe cases)
Xanthomas: Yellowish deposits of lipid under the skin, particularly around the eyes (xanthelasma), tendons (tendon xanthomas), or over joints
Corneal arcus: A grey-white ring around the cornea, often seen in younger patients with familial hypercholesterolaemia
Hepatosplenomegaly: Can occur in severe hypertriglyceridaemia.
Corneal arcus
Corneal arcus and xanthelesma
Tendon xanthoma
6. Diagnosis
History and physical examination: Assess for risk factors, family history, and signs of lipid deposits
Risk assessment: Use scoring systems like QRISK3 to determine the risk of cardiovascular disease and guide treatment decisions.
Investigation
Lipid profile: A fasting (and non-fasting) lipid profile measures total cholesterol, LDL cholesterol, high-density lipoprotein (HDL) cholesterol, and triglycerides
Liver function tests (LFTs): Done before starting statin therapy to check baseline liver function
U+Es: To assess renal function, especially if secondary causes like CKD/nephrotic syndrome are suspected
Thyroid function tests: To rule out hypothyroidism as a cause of secondary hyperlipidaemia
HbA1c and fasting glucose: To screen for diabetes, which can contribute to dyslipidaemia
Genetic testing: Consider in cases of suspected familial hypercholesterolaemia, particularly in young patients with high cholesterol and a strong family history of early IHD or stroke.
Differential diagnosis
Secondary hyperlipidaemia due to hypothyroidism, nephrotic syndrome, or diabetes.
Primary genetic disorders like familial hypercholesterolaemia, familial combined hyperlipidaemia, or dysbetalipoproteinaemia.
Drug-induced hyperlipidaemia: Caused by medications such as corticosteroids, antiretrovirals, or diuretics.
Desirable lipid levels
Total cholesterol (TChol): 5.0 mmol/L or less. However, about 2 in 3 adults in the UK have a TChol level of 5.0 mmol/L or above
LDL-cholesterol (‘bad cholesterol’): 3.0 mmol/L or less
HDL-cholesterol (‘good cholesterol’): 1.2 mmol/L or more
TChol/HDL ratio: 4.5 or less. That is, TChol divided by HDL-cholesterol. This reflects the fact that for any given TChol level, the more HDL, the better.
Triglyceride (TG): 1.7 mmol/L or less (borderline high = 1.8 to 2.2 mmol/L).
As a rule, the higher the LDL-cholesterol level, the greater the risk to health. A blood test only measuring total cholesterol may be misleading. A high total cholesterol may be caused by a high HDL-cholesterol level and is therefore healthy. Thus it is important to know the separate LDL and HDL-cholesterol levels.
Note. Normal and desired ranges will vary slightly from hospital to hospital.
7. Treatment
Lifestyle modifications:
Diet: Encourage a balanced diet low in saturated fats and rich in fruits, vegetables, whole grains, and omega-3 fatty acids
Weight management: Aim for a healthy BMI through diet and regular exercise
Physical activity: At least 150 minutes of moderate aerobic activity per week
Reduce alcohol intake: Particularly in patients with hypertriglyceridaemia
Smoking cessation: To improve overall cardiovascular health.
Pharmacological therapy:
Statins: First-line treatment for lowering LDL cholesterol. E.g. atorvastatin, simvastatin, rosuvastatin
Ezetimibe: Can be added to statins if LDL targets are not achieved or if statins are not tolerated
PCSK9 inhibitors: E.g. alirocumab, evolocumab, for patients with familial hypercholesterolaemia or those who cannot reach LDL goals with other treatments
Fibrates: Primarily used for hypertriglyceridaemia
Omega-3 fatty acids: Useful for lowering triglycerides.
Monitoring: Regular follow-up with lipid panels to assess treatment efficacy and compliance. Monitor for side effects of medications, particularly muscle symptoms with statins.
8. Complications
Cardiovascular disease: Including IHD and stroke
Pancreatitis: Associated with severe hypertriglyceridaemia (>10 mmol/L)
Peripheral vascular disease (PVD): Can lead to claudication and other complications.
9. Prognosis
The prognosis depends on the effective control of lipid levels and the management of cardiovascular risk factors
With appropriate treatment, the risk of cardiovascular events can be significantly reduced
Patients with familial hypercholesterolaemia have a higher risk of premature cardiovascular disease, but early identification and aggressive management can improve outcomes.
10. Prevention
Healthy lifestyle: Maintaining a balanced diet, regular physical activity, and a healthy weight are key to preventing hyperlipidaemia
Regular screening: Particularly in individuals with a family history of hyperlipidaemia or cardiovascular disease. QRISK assessments can guide when to start treatment
Patient education: Encourage adherence to a heart-healthy lifestyle and compliance with prescribed medications.
Summary
We have provided 10 medical revision notes about hyperlipidaemia. We hope it has been useful.
Top Tip
Cholesterol is not a disease. You need to combine all of the lipid profile with the patient to decide whether treatment is needed.